Methylmalonic acidaemia with bilateral globus pallidus involvement: a neuropathological study.
J Inherit Metab Dis
; 21(6): 639-44, 1998 Aug.
Article
in En
| MEDLINE
| ID: mdl-9762599
ABSTRACT
A 16-month-old boy was hospitalized because of a 1-day history of severe ketoacidosis with lethargy, hypotonia, vomiting, and important dyspnoea. Organic acid assay by gas chromatography-mass spectrometry confirmed the diagnosis of methylmalonic acidaemia (MMA). On the sixteenth day, he developed an acute extrapyramidal disorder. The CT scan of the brain disclosed bilaterally symmetric lucency of basal ganglia. He died at 17 months of age. Post-mortem neuropathological examination, showed severe necrosis with spongiosis, cystic cavitation and numerous lipid-laden macrophages of the globi pallidi, and mild spongiosis of subthalamic nuclei, mammillary bodies, portion of internal capsule adjacent to globus pallidus, superior cerebellar peduncles and tegmentum of brainstem. Pallidal infarction, a focal ischaemic lesion, demonstrates that ischaemia/energy depletion may be important in the etiology of the neuropathology of MMA.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Globus Pallidus
/
Metabolism, Inborn Errors
/
Methylmalonic Acid
Type of study:
Diagnostic_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
J Inherit Metab Dis
Year:
1998
Document type:
Article
Affiliation country:
Tunisia